Ashley and Greg Carper, parents to Caroline, 11, and Cole, 9, had no way of knowing they were both carriers of Leber’s Congenital Amaurosis (LCA), a rare inherited eye disease that appears early in a child’s life and is responsible for blindness or very low vision.

Siblings Cole Carper, 9, and Caroline Carper, 11, keep an eye on the weather during a springtime walk through the neighborhood.

“A spark of greatness exists in all people, but only by touching that spark to adversity’s flame does it blaze into the force that fuels our lives and the world!” Erik Weihenmayer’s quote from his book “Touch the Top of the World” is significantly inspiring at face value. It’s awe-inspiring though when you come to find out he is not only an author, athlete, adventurer, activist and motivational speaker but also the only blind person to ever reach the summit of Mt. Everest. More than 200 fully able-bodied individuals have lost their lives attempting to make the trek to the top of the world’s high mountain.

Erik Weihenmayer’s story may seem beyond belief but it is very true. Countless individuals dealing with the adversity of a special need have reached and are continuing to reach beyond what was originally expected of them. Siblings Cole and Caroline Carper are two such individuals. Because of a revolutionary clinical trial surgery, they literally see a much brighter future for themselves.

Ashley and Greg Carper, parents to Caroline, 11, and Cole, 9, had no way of knowing they were both carriers of Leber’s Congenital Amaurosis (LCA), a rare inherited eye disease that appears early in a child’s life and is responsible for blindness or very low vision. It is a type of genetic condition that manifests itself when both parents are carriers, much like cystic fibrosis. When the Carper children were diagnosed, LCA was considered rare. Over the past eight years, more and more is being learned about the condition.

“When Caroline and Cole were little their eyes did not track us. At six months, Caroline was tested and determined to have low vision. She had the cutest tiny pink PEZ glasses,” shares Ashley. “Then Cole was born and he had the same thing. Our pediatrician, Dr. Scott Sanders sent us to Arkansas Children’s Hospital and they sent us to Dallas where Cole was diagnosed with Leber’s. His prognosis was that his vision would deteriorate to blindness. Caroline had the same testing in Dallas with the same result. We were told there was no cure.”

What is Leber’s Congenital Amaurosis (LCA)?

The Foundation for Retinal Research describes LCA as a rare, hereditary disorder that leads to retinal dysfunction and visual impairment at an early age – often from birth. Of all the retinal degenerations, LCA has the earliest age of onset and can be the most severe.

Symptoms are often noticed early in a child’s life from the first few weeks to the first few months. Children may not focus on things in their environment. They may exhibit wobbly back and forth movements. Some children may press or push on their eyes.

LCA is an autosomal recessive disease which means both parents must be carriers of the defective gene. Autosomal or an autosome refers to the chromosome that is not a sex chromosome. Most people do not know they are carriers. Carriers can bear the defective gene without having the disease.

See All Obstacles

The Carpers were determined to find help for their children. “I’m a researcher by nature. I looked for all the information I could about Leber’s. I found a non-profit group in Chicago called the Foundation for Retinal Research. They provide education, support and fundraisers for clinical trials. They have yearly conferences to bring parents of children with LCA together.”

Ashley ended up sitting next to the “superstar researcher and speaker” Dr. Jean Bennett at the conference. That first conference gave Ashley that little ounce of hope to keep trying. There was a clinical trial beginning that involved gene therapy. The trial was only designed for those patients with an RPE65 gene mutation which can lead to partial or total loss of vision. The RPE65 gene is necessary for normal vision.

“We had to be their eyes before the surgery and give them verbal cues like “watch the step.” I had done it so long, I was still doing it after the surgery. The kids often remind me now to stop,” mom, Ashley Carper, says with a smile.

The Carpers continued digging for more information to help Caroline and Cole. At the next year’s conference, Ashley coincidentally ended up sitting by Dr. Bennett again. She felt like this was a good sign, but knew the odds were not in her favor for gaining a spot for both of her children in the clinical trial. Both children had to test positively for the RPE65 gene mutation and then be chosen for gene therapy surgery. There were three phases of the clinical trial that included a great deal of testing, going to Philadelphia where the procedures were to take place, and a commitment of 15 years including four visits to Philadelphia for a year. At first the children were chosen for the control group which meant they would have surgery one year later than the first group. Then they were chosen to have the surgery where, in Ashley’s words, “a tiny little drop of DNA was inserted into their eyes.”

“They had to lie flat for 24 hours in hopes that the gene would settle into the right place in the eye. There was pressure and there were bubbles in their eyes. They had to wear eye patches for a few days. As the bubbles broke up, their vision got better. They could see the bubbles as they broke up and they would name them,” Ashley says with a smile.

“I was so anxious about the process. Would we be chosen? Would only one be chosen? God protected us to have both children accepted into the trial,” Ashley states. “Cole and Caroline have been given the gift of sight, which is no doubt a gift from God. I often wonder, with some guilt because we know many blind and visually impaired individuals, why both of our kids had the exact gene type, age, and range of vision to be chosen for this life changing surgery. I wonder how their incredible story will unfold and the responsibility we have to tell others of God’s blessing in our lives.”

What is Gene Therapy?

According to the Center for Genetics Education, gene therapy is the use of genes as medicine involving the transfer of a therapeutic or working copy of a gene into specific cells of an individual in order to repair a faulty gene copy. It is NOT stem cell therapy.

Much more research is being done regarding gene therapy and its multitude of potential uses. There are considerable challenges which include the need for the specific condition in question must be well understood, the faulty gene must be identified and a working copy available, and an efficient delivery mean of the working copies must exist. Gene delivery is very complex and challenging.

Gone Are the Dark Clouds

The Carpers’ lives have changed in countless ways. Both children can see and do things they never could do before. Ashley says, “We all love to bike ride. Before surgery the kids would wear a bright vest with “Low Vision Rider” written on the back of the vest. There were many verbal cues when riding and truly just holding my breath hoping they did not run over small children. And, Caroline was totally night blind before the surgery. Now playing outside at dusk or dark with neighborhood friends is one of her favorite things to do and she loves to read at night which is incredible. She also could see snowflakes this winter for the first time.”

Ashley continues, “Cole was only a Braille reader before the surgery and he used a cane in most areas. Now he can read the percent sign on the milk cartons in the refrigerator! The kids found a caterpillar the other night. They could not believe how many legs he had. They could not have seen this before surgery. They are continually seeing things for the first time. It is so much fun to watch them experience things visually now. Things many of us take for granted on a daily basis.”

Cole uses the CCTV (pictured here) for schoolwork like math and also for enjoyment. It is a device that enlarges print and images. Before his surgery, Cole was only a Braille reader. He loves reading anything related to the solar system and science.

Braille: Language or Code?

You may have heard of Braille, but do you truly know what it is? Sometimes people think it is a language, but it is actually a code that is traditionally written with embossed paper. The small characters are tiny rectangular blocks called cells or dots that distinguish between one character and another. Braille also varies from language to language with many translations and can include illustrations, graphs and other features. It was created in the 1800s by Frenchman Louis Braille who lost his eyesight as a child. His system first included a code for the alphabet and musical notation later.

Nothing But Blue Skies: Advice From The Carpers

Never give up on a cure, but don’t live life waiting on that cure. We had never told the kids they were losing their vision nor did we tell them about the trial until they were accepted. They were perfect with or without the surgery.

Buy a BIG filing cabinet for all of the school and medical papers and get organized early.

Allow your children to experience success and failure just like a typical kid. Kids with special needs need to be protected from serious harm, but not to the extent they can’t experience life.

For information on potential therapies for your child, check out ClinicialTrials.gov. Search for resources, options and ways to fund and find a way to help your child. Align yourself with researchers and other parents.